NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)
|
rs113994096
|
0.00160
|
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala)
|
rs113994167
|
0.00116
|
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg)
|
rs121918054
|
0.00096
|
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)
|
rs113994097
|
0.00081
|
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr)
|
rs113994095
|
0.00068
|
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp)
|
rs145843073
|
0.00063
|
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys)
|
rs201477273
|
0.00033
|
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser)
|
rs113994098
|
0.00028
|
NM_002693.3(POLG):c.2246T>C (p.Phe749Ser)
|
rs202037973
|
0.00024
|
NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln)
|
rs398123084
|
0.00014
|
NM_000018.4(ACADVL):c.865G>A (p.Gly289Arg)
|
rs200788251
|
0.00014
|
NM_002693.3(POLG):c.2857C>T (p.Arg953Cys)
|
rs11546842
|
0.00011
|
NM_000018.4(ACADVL):c.520G>A (p.Val174Met)
|
rs369560930
|
0.00009
|
NM_002693.3(POLG):c.1880G>A (p.Arg627Gln)
|
rs375305567
|
0.00008
|
NM_002693.3(POLG):c.2740A>C (p.Thr914Pro)
|
rs139590686
|
0.00008
|
NM_002693.3(POLG):c.2636A>G (p.Gln879Arg)
|
rs368587966
|
0.00007
|
NM_001278716.2(FBXL4):c.616C>T (p.Arg206Ter)
|
rs964532159
|
0.00006
|
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys)
|
rs144500145
|
0.00006
|
NM_002693.3(POLG):c.3287G>A (p.Arg1096His)
|
rs368435864
|
0.00006
|
NM_000018.4(ACADVL):c.779C>T (p.Thr260Met)
|
rs113994168
|
0.00005
|
NM_001278716.2(FBXL4):c.64C>T (p.Arg22Ter)
|
rs200440128
|
0.00005
|
NM_002693.3(POLG):c.3104+1G>A
|
rs138917386
|
0.00005
|
NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp)
|
rs745832866
|
0.00004
|
NM_000018.4(ACADVL):c.1531C>T (p.Arg511Trp)
|
rs771025937
|
0.00004
|
NM_001278716.2(FBXL4):c.1303C>T (p.Arg435Ter)
|
rs201889294
|
0.00004
|
NM_002693.3(POLG):c.1433+1G>A
|
rs771623994
|
0.00004
|
NM_002693.3(POLG):c.3104+3A>T
|
rs778573169
|
0.00004
|
NM_002693.3(POLG):c.428C>T (p.Ala143Val)
|
rs796052899
|
0.00004
|
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys)
|
rs771874163
|
0.00003
|
NM_000018.4(ACADVL):c.1097G>A (p.Arg366His)
|
rs112406105
|
0.00003
|
NM_000018.4(ACADVL):c.1182+1G>A
|
rs113690956
|
0.00003
|
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln)
|
rs751995154
|
0.00003
|
NM_000018.4(ACADVL):c.1748C>G (p.Ser583Trp)
|
rs1085307648
|
0.00003
|
NM_000018.4(ACADVL):c.1837C>T (p.Arg613Trp)
|
rs118204014
|
0.00003
|
NM_002693.3(POLG):c.2420G>A (p.Arg807His)
|
rs796052887
|
0.00003
|
NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys)
|
rs201732356
|
0.00003
|
NM_000018.4(ACADVL):c.1322G>A (p.Gly441Asp)
|
rs2309689
|
0.00002
|
NM_000018.4(ACADVL):c.1358G>A (p.Arg453Gln)
|
rs138058572
|
0.00002
|
NM_000018.4(ACADVL):c.1679-6G>A
|
rs113994171
|
0.00002
|
NM_000018.4(ACADVL):c.881_884dup (p.Pro296fs)
|
rs766192888
|
0.00002
|
NM_002693.3(POLG):c.1156C>T (p.Arg386Cys)
|
rs199759055
|
0.00002
|
NM_002693.3(POLG):c.3218C>T (p.Pro1073Leu)
|
rs267606959
|
0.00002
|
NM_000018.4(ACADVL):c.1077+1G>T
|
rs140989450
|
0.00001
|
NM_000018.4(ACADVL):c.1316G>A (p.Gly439Asp)
|
rs533055438
|
0.00001
|
NM_000018.4(ACADVL):c.1349G>A (p.Arg450His)
|
rs118204016
|
0.00001
|
NM_000018.4(ACADVL):c.1357C>T (p.Arg453Ter)
|
rs794727113
|
0.00001
|
NM_000018.4(ACADVL):c.1360G>A (p.Asp454Asn)
|
rs1419606204
|
0.00001
|
NM_000018.4(ACADVL):c.1368dup (p.Ile457fs)
|
rs1175359422
|
0.00001
|
NM_000018.4(ACADVL):c.1372T>C (p.Phe458Leu)
|
rs118204017
|
0.00001
|
NM_000018.4(ACADVL):c.1375C>T (p.Arg459Trp)
|
rs766742117
|
0.00001
|
NM_000018.4(ACADVL):c.138+1G>A
|
rs747351687
|
0.00001
|
NM_000018.4(ACADVL):c.1388G>A (p.Gly463Glu)
|
rs200366828
|
0.00001
|
NM_000018.4(ACADVL):c.1405C>T (p.Arg469Trp)
|
rs113994170
|
0.00001
|
NM_000018.4(ACADVL):c.1406G>A (p.Arg469Gln)
|
rs398123083
|
0.00001
|
NM_000018.4(ACADVL):c.1468G>C (p.Ala490Pro)
|
rs759775666
|
0.00001
|
NM_000018.4(ACADVL):c.1532G>A (p.Arg511Gln)
|
rs200771970
|
0.00001
|
NM_000018.4(ACADVL):c.1748C>T (p.Ser583Leu)
|
rs1085307648
|
0.00001
|
NM_000018.4(ACADVL):c.1807dup (p.Cys603fs)
|
rs1555529088
|
0.00001
|
NM_000018.4(ACADVL):c.343-1G>A
|
rs1555527877
|
0.00001
|
NM_000018.4(ACADVL):c.364A>G (p.Asn122Asp)
|
rs1057520088
|
0.00001
|
NM_000018.4(ACADVL):c.476A>G (p.Gln159Arg)
|
rs746688190
|
0.00001
|
NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser)
|
rs545215807
|
0.00001
|
NM_000018.4(ACADVL):c.577G>C (p.Gly193Arg)
|
rs763630981
|
0.00001
|
NM_000018.4(ACADVL):c.603C>G (p.Tyr201Ter)
|
rs371407903
|
0.00001
|
NM_000018.4(ACADVL):c.605T>C (p.Leu202Pro)
|
rs398123090
|
0.00001
|
NM_000018.4(ACADVL):c.63-2A>C
|
rs1555527513
|
0.00001
|
NM_000018.4(ACADVL):c.637G>C (p.Ala213Pro)
|
rs140629318
|
0.00001
|
NM_000018.4(ACADVL):c.652_682dup (p.Ile228fs)
|
rs746860401
|
0.00001
|
NM_000018.4(ACADVL):c.664G>A (p.Gly222Arg)
|
rs398123091
|
0.00001
|
NM_000018.4(ACADVL):c.685C>T (p.Arg229Ter)
|
rs786204536
|
0.00001
|
NM_000018.4(ACADVL):c.753-2A>C
|
rs398123092
|
0.00001
|
NM_000018.4(ACADVL):c.887_888del (p.Pro296fs)
|
rs753108198
|
0.00001
|
NM_000018.4(ACADVL):c.896A>T (p.Lys299Met)
|
rs771247610
|
0.00001
|
NM_001278716.2(FBXL4):c.106A>T (p.Arg36Ter)
|
rs1182326570
|
0.00001
|
NM_001278716.2(FBXL4):c.292C>T (p.Arg98Ter)
|
rs1554222130
|
0.00001
|
NM_001278716.2(FBXL4):c.859-1G>T
|
rs368965675
|
0.00001
|
NM_002693.3(POLG):c.1120C>T (p.Arg374Ter)
|
rs960142425
|
0.00001
|
NM_002693.3(POLG):c.1721G>A (p.Arg574Gln)
|
rs764287987
|
0.00001
|
NM_002693.3(POLG):c.1790G>A (p.Arg597Gln)
|
rs1001570418
|
0.00001
|
NM_002693.3(POLG):c.1943C>G (p.Pro648Arg)
|
rs796052906
|
0.00001
|
NM_002693.3(POLG):c.2143C>T (p.Gln715Ter)
|
rs1254855971
|
0.00001
|
NM_002693.3(POLG):c.2419C>T (p.Arg807Cys)
|
rs769827124
|
0.00001
|
NM_002693.3(POLG):c.2558G>A (p.Arg853Gln)
|
rs796052888
|
0.00001
|
NM_002693.3(POLG):c.2563G>T (p.Val855Leu)
|
rs771254207
|
0.00001
|
NM_002693.3(POLG):c.2870C>T (p.Ala957Val)
|
rs753160398
|
0.00001
|
NM_002693.3(POLG):c.3241C>T (p.Arg1081Ter)
|
rs767708989
|
0.00001
|
NM_002693.3(POLG):c.3285C>G (p.Ser1095Arg)
|
rs761649878
|
0.00001
|
NM_002693.3(POLG):c.3483-4_3497del
|
rs756325504
|
0.00001
|
NM_002693.3(POLG):c.3640C>T (p.Gln1214Ter)
|
rs781256643
|
0.00001
|
NM_002693.3(POLG):c.679C>T (p.Arg227Trp)
|
rs121918056
|
0.00001
|
NC_012920.1(MT-ATP6):m.8993_8994inv
|
|
|
NC_012920.1(MT-ATP6):m.9032T>C
|
rs1603221994
|
|
NC_012920.1(MT-ATP6):m.9035T>C
|
rs1603222000
|
|
NC_012920.1(MT-CYB):m.12276G>A
|
rs1603223645
|
|
NC_012920.1(MT-CYB):m.14710G>A
|
rs1603224840
|
|
NC_012920.1(MT-CYB):m.14739G>A
|
rs1603224850
|
|
NC_012920.1(MT-CYB):m.15915G>A
|
rs1603225588
|
|
NC_012920.1(MT-CYB):m.1644G>A
|
rs587776441
|
|
NC_012920.1(MT-CYB):m.3243A>T
|
rs199474657
|
|
NC_012920.1(MT-CYB):m.3255G>A
|
rs1603218856
|
|
NC_012920.1(MT-CYB):m.3302A>G
|
rs1603218878
|
|
NC_012920.1(MT-CYB):m.4298G>A
|
rs1603219395
|
|
NC_012920.1(MT-CYB):m.5536_5537insT
|
rs1603220010
|
|
NC_012920.1(MT-CYB):m.5538G>A
|
rs1603220012
|
|
NC_012920.1(MT-CYB):m.5540G>A
|
rs1603220014
|
|
NC_012920.1(MT-CYB):m.5543T>C
|
rs1603220016
|
|
NC_012920.1(MT-CYB):m.8362T>G
|
rs1603221423
|
|
NC_012920.1(MT-ND1):m.3380G>A
|
rs1603218926
|
|
NC_012920.1(MT-ND2):m.5001dup
|
rs1603219713
|
|
NC_012920.1(MT-ND5):m.12425del
|
rs1603223730
|
|
NC_012920.1:m.11778G>A
|
rs199476112
|
|
NC_012920.1:m.13094T>C
|
rs1603224029
|
|
NC_012920.1:m.13514A>G
|
rs587776440
|
|
NC_012920.1:m.14484T>C
|
rs199476104
|
|
NC_012920.1:m.3243A>G
|
rs199474657
|
|
NC_012920.1:m.3291T>C
|
rs869312463
|
|
NC_012920.1:m.3460G>A
|
rs199476118
|
|
NC_012920.1:m.3481G>A
|
rs587776433
|
|
NC_012920.1:m.7445A>G
|
rs199474818
|
|
NC_012920.1:m.7471dup
|
rs111033319
|
|
NC_012920.1:m.8969G>A
|
rs794726857
|
|
NC_012920.1:m.8993T>C
|
rs199476133
|
|
NC_012920.1:m.8993T>G
|
rs199476133
|
|
NC_012920.1:m.9176T>C
|
rs199476135
|
|
NC_012920.1:m.9176T>G
|
rs199476135
|
|
NC_012920.1:m.9185T>C
|
rs199476138
|
|
NM_000018.3(ACADVL):c.1375dup
|
rs796051916
|
|
NM_000018.4(ACADVL):c.1039del (p.Ala347fs)
|
rs2071295244
|
|
NM_000018.4(ACADVL):c.104del (p.Pro35fs)
|
rs1443151475
|
|
NM_000018.4(ACADVL):c.1056_1058delinsA (p.Met352fs)
|
rs2071296591
|
|
NM_000018.4(ACADVL):c.1059_1060del (p.Gly354fs)
|
rs1402646371
|
|
NM_000018.4(ACADVL):c.105_109dup (p.Arg37fs)
|
rs1555527532
|
|
NM_000018.4(ACADVL):c.1077+1G>A
|
rs140989450
|
|
NM_000018.4(ACADVL):c.1077+2T>C
|
rs1057516370
|
|
NM_000018.4(ACADVL):c.1077_1077+1delinsCAC
|
rs1057516686
|
|
NM_000018.4(ACADVL):c.1193_1194insGCA (p.Tyr398Ter)
|
rs2071337202
|
|
NM_000018.4(ACADVL):c.1309A>G (p.Met437Val)
|
rs2071345754
|
|
NM_000018.4(ACADVL):c.1316del (p.Gly439fs)
|
rs748077880
|
|
NM_000018.4(ACADVL):c.1316dup (p.Met440fs)
|
rs748077880
|
|
NM_000018.4(ACADVL):c.1317dup (p.Met440fs)
|
rs1567567440
|
|
NM_000018.4(ACADVL):c.1367G>A (p.Arg456His)
|
rs794727112
|
|
NM_000018.4(ACADVL):c.138+2dup
|
rs1555527548
|
|
NM_000018.4(ACADVL):c.1497CCT[1] (p.Leu502del)
|
rs762619071
|
|
NM_000018.4(ACADVL):c.1532+2T>C
|
rs111851815
|
|
NM_000018.4(ACADVL):c.1534_1535del (p.Arg512fs)
|
rs2071371983
|
|
NM_000018.4(ACADVL):c.155C>G (p.Ser52Ter)
|
rs2071146837
|
|
NM_000018.4(ACADVL):c.1593dup (p.Ser532fs)
|
rs1060499596
|
|
NM_000018.4(ACADVL):c.1605+2T>A
|
rs1597537351
|
|
NM_000018.4(ACADVL):c.1605+2T>C
|
rs1597537351
|
|
NM_000018.4(ACADVL):c.1613G>C (p.Arg538Pro)
|
rs201350598
|
|
NM_000018.4(ACADVL):c.1684_1685del (p.Gln562fs)
|
rs2071393587
|
|
NM_000018.4(ACADVL):c.1723dup (p.Leu575fs)
|
rs2071395312
|
|
NM_000018.4(ACADVL):c.1730_1733dup (p.Met578fs)
|
rs2071395559
|
|
NM_000018.4(ACADVL):c.1752-3_1755del
|
rs2071401309
|
|
NM_000018.4(ACADVL):c.1806_1807del (p.Leu602_Cys603insTer)
|
rs796051917
|
|
NM_000018.4(ACADVL):c.1818G>A (p.Trp606Ter)
|
rs2071404265
|
|
NM_000018.4(ACADVL):c.1843C>T (p.Arg615Ter)
|
rs1057520507
|
|
NM_000018.4(ACADVL):c.1878G>A (p.Trp626Ter)
|
rs1555529186
|
|
NM_000018.4(ACADVL):c.1891dup (p.Tyr631fs)
|
rs2071412066
|
|
NM_000018.4(ACADVL):c.1896dup (p.Asn633fs)
|
rs2071412513
|
|
NM_000018.4(ACADVL):c.192del (p.Lys64fs)
|
rs771055189
|
|
NM_000018.4(ACADVL):c.1967G>C (p.Ter656Ser)
|
rs2071416769
|
|
NM_000018.4(ACADVL):c.199A>T (p.Lys67Ter)
|
rs765432568
|
|
NM_000018.4(ACADVL):c.266del (p.Pro89fs)
|
rs771808680
|
|
NM_000018.4(ACADVL):c.278-1G>A
|
rs1298004609
|
|
NM_000018.4(ACADVL):c.307_323dup (p.Val109fs)
|
rs1597520263
|
|
NM_000018.4(ACADVL):c.308_309del (p.Lys103fs)
|
rs1057516979
|
|
NM_000018.4(ACADVL):c.339C>A (p.Phe113Leu)
|
rs750653177
|
|
NM_000018.4(ACADVL):c.342+1G>C
|
rs780020193
|
|
NM_000018.4(ACADVL):c.343G>T (p.Glu115Ter)
|
rs370146676
|
|
NM_000018.4(ACADVL):c.343del
|
rs387906249
|
|
NM_000018.4(ACADVL):c.385GAG[1] (p.Glu130del)
|
rs387906251
|
|
NM_000018.4(ACADVL):c.428_467del (p.Gly143fs)
|
rs758144859
|
|
NM_000018.4(ACADVL):c.481G>A (p.Ala161Thr)
|
rs375284481
|
|
NM_000018.4(ACADVL):c.541dup (p.His181fs)
|
rs1337636757
|
|
NM_000018.4(ACADVL):c.602A>G (p.Tyr201Cys)
|
rs1597525536
|
|
NM_000018.4(ACADVL):c.637G>A (p.Ala213Thr)
|
rs140629318
|
|
NM_000018.4(ACADVL):c.644_647del (p.Phe214_Cys215insTer)
|
rs1057516714
|
|
NM_000018.4(ACADVL):c.65C>A (p.Ser22Ter)
|
rs727503788
|
|
NM_000018.4(ACADVL):c.668C>G (p.Ser223Ter)
|
rs2071253904
|
|
NM_000018.4(ACADVL):c.711_712del (p.Cys237fs)
|
rs2071256607
|
|
NM_000018.4(ACADVL):c.746G>A (p.Trp249Ter)
|
rs2071258420
|
|
NM_000018.4(ACADVL):c.753-2A>G
|
rs398123092
|
|
NM_000018.4(ACADVL):c.797_798del (p.Pro266fs)
|
rs2071266269
|
|
NM_000018.4(ACADVL):c.79_100del (p.Leu27fs)
|
rs2071119862
|
|
NM_000018.4(ACADVL):c.830AGA[1] (p.Lys278del)
|
rs769280599
|
|
NM_000018.4(ACADVL):c.856_857del (p.Arg286fs)
|
rs2071269046
|
|
NM_000018.4(ACADVL):c.869dup (p.Ile291fs)
|
rs886044671
|
|
NM_000018.4(ACADVL):c.879-8T>A
|
rs2071286355
|
|
NM_000018.4(ACADVL):c.890AGA[2] (p.Lys299del)
|
rs387906252
|
|
NM_000018.4(ACADVL):c.926_927del (p.Glu309fs)
|
rs2071289046
|
|
NM_001278716.2(FBXL4):c.1067del (p.Gly356fs)
|
rs1554219474
|
|
NM_001278716.2(FBXL4):c.1210C>T (p.Gln404Ter)
|
rs1187832552
|
|
NM_001278716.2(FBXL4):c.1317G>A (p.Glu439=)
|
rs1554218789
|
|
NM_001278716.2(FBXL4):c.1389+3_1389+6del
|
rs1554216735
|
|
NM_001278716.2(FBXL4):c.1555C>T (p.Gln519Ter)
|
rs398123059
|
|
NM_001278716.2(FBXL4):c.1641_1642del (p.Cys547_Asp548delinsTer)
|
rs765882664
|
|
NM_001278716.2(FBXL4):c.1648_1649del (p.Asp550fs)
|
rs1554215986
|
|
NM_001278716.2(FBXL4):c.1652T>A (p.Ile551Asn)
|
rs1554215979
|
|
NM_001278716.2(FBXL4):c.1687C>T (p.Gln563Ter)
|
rs1554215964
|
|
NM_001278716.2(FBXL4):c.219T>A (p.Tyr73Ter)
|
rs747536886
|
|
NM_001278716.2(FBXL4):c.273_277del (p.Phe91fs)
|
rs766892502
|
|
NM_001278716.2(FBXL4):c.316C>T (p.Gln106Ter)
|
rs1554222122
|
|
NM_001278716.2(FBXL4):c.326del (p.Ser109fs)
|
rs761215749
|
|
NM_001278716.2(FBXL4):c.513-1G>A
|
rs1554221258
|
|
NM_001278716.2(FBXL4):c.618_621dup (p.Glu208fs)
|
rs886041625
|
|
NM_001278716.2(FBXL4):c.858+1G>T
|
rs1394080480
|
|
NM_002437.4(MPV17):c.71-2_79delins4
|
|
|
NM_002437.5(MPV17):c.280-1dup
|
rs766160589
|
|
NM_002437.5(MPV17):c.293del (p.Pro98fs)
|
rs1553383480
|
|
NM_002437.5(MPV17):c.376-1G>A
|
rs1423840146
|
|
NM_002437.5(MPV17):c.376-2A>C
|
rs113055360
|
|
NM_002693.3(POLG):c.1270_1271del (p.Leu424fs)
|
rs796052908
|
|
NM_002693.3(POLG):c.1289T>C (p.Met430Thr)
|
rs1567191474
|
|
NM_002693.3(POLG):c.1345C>T (p.Gln449Ter)
|
rs1567191417
|
|
NM_002693.3(POLG):c.1562del (p.Pro521fs)
|
rs1567191094
|
|
NM_002693.3(POLG):c.1789C>T (p.Arg597Trp)
|
rs139717885
|
|
NM_002693.3(POLG):c.1874C>T (p.Pro625Leu)
|
rs1064794214
|
|
NM_002693.3(POLG):c.202C>T (p.Gln68Ter)
|
rs202039305
|
|
NM_002693.3(POLG):c.2038del (p.Leu680fs)
|
rs1567188632
|
|
NM_002693.3(POLG):c.2070+1G>A
|
rs1567188588
|
|
NM_002693.3(POLG):c.2125C>T (p.Arg709Ter)
|
rs867038717
|
|
NM_002693.3(POLG):c.2157+5_2157+6delinsAG
|
rs1596354607
|
|
NM_002693.3(POLG):c.2293C>A (p.Pro765Thr)
|
rs1003442806
|
|
NM_002693.3(POLG):c.2395del (p.Ser799fs)
|
rs796052919
|
|
NM_002693.3(POLG):c.2426+1G>C
|
rs1567187745
|
|
NM_002693.3(POLG):c.2480+1G>A
|
rs1567187326
|
|
NM_002693.3(POLG):c.2543_2544dup (p.Thr849fs)
|
rs1567187103
|
|
NM_002693.3(POLG):c.2551A>G (p.Thr851Ala)
|
rs775445970
|
|
NM_002693.3(POLG):c.2564T>C (p.Val855Ala)
|
rs963553787
|
|
NM_002693.3(POLG):c.2662G>A (p.Gly888Ser)
|
rs1567186787
|
|
NM_002693.3(POLG):c.2663G>A (p.Gly888Asp)
|
rs878854560
|
|
NM_002693.3(POLG):c.2669A>C (p.Asp890Ala)
|
rs1567186779
|
|
NM_002693.3(POLG):c.2674dup (p.Asp892fs)
|
rs1283198587
|
|
NM_002693.3(POLG):c.2794C>T (p.His932Tyr)
|
rs121918048
|
|
NM_002693.3(POLG):c.2827C>T (p.Arg943Cys)
|
rs1567186614
|
|
NM_002693.3(POLG):c.2828G>A (p.Arg943His)
|
rs1567186613
|
|
NM_002693.3(POLG):c.2851T>A (p.Tyr951Asn)
|
rs1567186591
|
|
NM_002693.3(POLG):c.2864A>G (p.Tyr955Cys)
|
rs113994099
|
|
NM_002693.3(POLG):c.3067C>T (p.Gln1023Ter)
|
rs1567185770
|
|
NM_002693.3(POLG):c.3149del (p.Lys1050fs)
|
rs1567185603
|
|
NM_002693.3(POLG):c.3430_3433dup (p.Asp1145fs)
|
rs1567185048
|
|
NM_002693.3(POLG):c.3447dup (p.Ala1150fs)
|
rs1567185026
|
|
NM_002693.3(POLG):c.3483-2A>G
|
rs1057518035
|
|
NM_002693.3(POLG):c.3490_3493dup (p.Ala1165fs)
|
rs778115255
|
|
NM_002693.3(POLG):c.3572A>G (p.Lys1191Arg)
|
rs1567183988
|
|
NM_002693.3(POLG):c.3573G>T (p.Lys1191Asn)
|
rs1085307741
|
|
NM_002693.3(POLG):c.3673dup (p.Glu1225fs)
|
rs1567183122
|
|
NM_002693.3(POLG):c.698dup (p.Tyr233Ter)
|
rs1567192884
|
|
NM_002693.3(POLG):c.705G>A (p.Trp235Ter)
|
rs1567192879
|
|
NM_006567.5(FARS2):c.424G>T (p.Asp142Tyr)
|
rs145555213
|
|
NM_006567.5(FARS2):c.431A>G (p.Tyr144Cys)
|
rs397514610
|
|
m.10158T>C
|
rs199476117
|
|
m.10191T>C
|
rs267606890
|
|
m.10197G>A
|
rs267606891
|
|
m.10663T>C
|
rs1556423844
|
|
m.11777C>A
|
rs28384199
|
|
m.12147G>A
|
rs121434474
|
|
m.12315G>A
|
rs121434462
|
|
m.13042G>A
|
rs267606898
|
|
m.13513G>A
|
rs267606897
|
|
m.14459G>A
|
rs199476105
|
|
m.14487T>C
|
rs199476109
|
|
m.14846G>A
|
rs207459998
|
|
m.15150G>A
|
rs207460000
|
|
m.15242G>A
|
rs207459999
|
|
m.15967G>A
|
rs199474701
|
|
m.1606G>A
|
rs199476143
|
|
m.3251A>G
|
rs199474662
|
|
m.3256C>T
|
rs199474659
|
|
m.3260A>G
|
rs199474663
|
|
m.3271T>C
|
rs199474658
|
|
m.3274A>G
|
rs199474666
|
|
m.3303C>T
|
rs199474660
|
|
m.3697G>A
|
rs199476122
|
|
m.3946G>A
|
rs199476123
|
|
m.5521G>A
|
rs199474673
|
|
m.5591G>A
|
rs121434458
|
|
m.5728T>C
|
rs199476132
|
|
m.583G>A
|
rs118203885
|
|
m.586G>A
|
rs387906734
|
|
m.616T>C
|
rs387906420
|
|
m.7497G>A
|
rs387906419
|
|
m.7511T>C
|
rs199474821
|
|
m.7512T>C
|
rs199474817
|
|
m.8344A>G
|
rs118192098
|
|
m.8356T>C
|
rs118192099
|
|
m.8363G>A
|
rs118192100
|
|
m.8528T>C
|
rs387906422
|
|
m.9379G>A
|
rs267606615
|
|